Exercise intervention in a family with exercise intolerance and a novel mutation in the mitochondrial POLG gene

2016 ◽  
Vol 26 ◽  
pp. S174
Author(s):  
M. Morán ◽  
A. Blázquez ◽  
C. Fiuza-Luces ◽  
J. Díez-Bermejo ◽  
A. Delmiro ◽  
...  
Neurology ◽  
2000 ◽  
Vol 55 (8) ◽  
pp. 1210-1212 ◽  
Author(s):  
T. Pulkes ◽  
A. Siddiqui ◽  
J. A. Morgan-Hughes ◽  
M. G. Hanna

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Łukasz Rogowski ◽  
Wioletta Dziubek ◽  
Kusztal Mariusz ◽  
Katarzyna Bulinska ◽  
Tomasz Gołębiowski ◽  
...  

Abstract Background and Aims Decreased exercise capacity due to muscle weakness and exercise intolerance reduces the ability to perform activities of daily living in patients with end-stage kidney disease. Data on exercise type in dialysis population and its muscle effects are scarce. We aimed to determine the impact of training type (strength, resistance and mixed) on cardiovascular performance, muscle function (strength-speed parameters, electrophysiological function of muscles) in patients on hemodialysis maintenance. Method Eighty six dialysis patients underwent claster randomisation and were assigned to an exercise intervention groups: A - controlled endurance training during haemodialysis using rotors (MOTOmed letto2), B - controlled force training (resistance), C - Tai Chi training on non dialysis days. Intervention lasted 6 months, 3 times a week (A, B) and 2 times a week (C) for 60 minutes. The outcome measures were spiroergometry (VO2/VO2max), strength of the lower limbs and electromyographic examination. Values at the baseline and 6 months later were compared. Results 45 patients completed intervention period and were analysed. Mean age in group A was 64±12y (n-16), in B was 60,5±10y. (n-15) and in C – 68,5±9y. (n-14). Patients did not differ markedly between groups in term of sex, BMI, dialysis vintage and comorbidities. After 6 months of training, VO2 and VO2max increased significantly only in group B (resistance training) Δ12.7 % for VO2 and 12.9% for VO2max but not in A and C group (Fig.1.). Regarding force torque of quadriceps (ΔPT) in isometric conditions the highest peak values were measured in group B (resistance training), namely increase by 13.6% (p=0.0004) in right (R) and 14% (p<0.0001) in left (L); in group A (endurance) 3.2% in R and 3.7% in L; in group C (Tai Chi group) by 7% (p<0.05) in R and 6.8% (p<0.05) in L. In terms of changes in electrophysiological function of right (QEMG_R) and left (QEMG_L) quadriceps, there were increases: for group A by 10.5% (p<0.0001) and 9.6% (p<0.05); B 9.7% (p=0.0002) and 20.1% (p=0.0001); for C by 4.5% and 6.2% for R and L, respectively (Fig.2). In groups B and C significant increases in static force moments (Δ%PT) was associated with increases in electrophysiological action (Δ%QEMG), but in group A increase in EMG activity did not correspond with rise in muscle force (Fig.2). Conclusion Differences in muscle strength and functions were observed after 6 months of various type of exercise intervention in dialysis patients. Resistance training during dialysis showed the largest improvement in cardiorespiratory function and isometric leg muscle strength.


2015 ◽  
Vol 29 (2) ◽  
pp. 45-54 ◽  
Author(s):  
Faye S. Routledge ◽  
Judith A. McFetridge-Durdle ◽  
Marilyn Macdonald ◽  
Lynn Breau ◽  
Tavis Campbell

Ruminating about a prior anger provoking event is found to elevate blood pressure (BP) and delay BP recovery. Delayed BP recovery may be associated with increased risk of hypertension. Interventions that improve BP recovery may be beneficial for cardiovascular health. The purposes of this study were to evaluate the influence of rumination and anger on BP reactivity and recovery, to compare the effect of an exercise intervention or distraction intervention on BP recovery and to explore if exercise improved BP recovery by distracting participants from stressor-related rumination and anger. Healthy, normotensive participants (n = 79, mean age 22.2 ± 4.0 years) underwent an anger-recall interview stressor task, 3 min of exercise (walking), distraction (reading) or no-intervention (quiet sitting) and a 15 min recovery period. State anger reactivity was associated with Δ diastolic (D) BP reactivity and approached significance with Δ systolic (S) BP reactivity. Trait rumination was associated with greater SBP during recovery. Δ SBP recovery did not differ between the exercise, distraction and no-intervention groups. Although there were no differences in Δ DBP recovery between the exercise and no-intervention groups, distraction improved Δ DBP recovery compared to the exercise intervention but not the no-intervention. The proportion of anger-related thoughts (state rumination) in the exercise group did not differ from the distraction or no-intervention groups. However, a smaller proportion of participants in the distraction intervention reported an anger-related thought during recovery compared to the no-intervention group with 76% of their thoughts relating to the provided distraction. Overall, post-stressor exercise was not found to improve BP recovery while reading was effective at distracting individuals from angry thoughts (state rumination) but had no effect on BP compared to no-intervention.


2005 ◽  
Author(s):  
Bruce Reeder ◽  
Karen Chad ◽  
Liz Harrison ◽  
Nigel Ashworth ◽  
Suzanne Sheppard ◽  
...  

2011 ◽  
Vol 42 (S 01) ◽  
Author(s):  
GC Korenke ◽  
M Wagner ◽  
A Maak ◽  
G Rosenberger ◽  
K Kutsche

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
A. Dieckmann ◽  
F. Majer ◽  
H. Hulkova ◽  
M. Farr ◽  
T. Kalina ◽  
...  

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.


1992 ◽  
Vol 67 (01) ◽  
pp. 063-065 ◽  
Author(s):  
Sherryl A M Taylor ◽  
Jacalyn Duffin ◽  
Cherie Cameron ◽  
Jerome Teitel ◽  
Bernadette Garvey ◽  
...  

SummaryChristmas disease was first reported as a distinct clinical entity in two manuscripts published in 1952 (1, 2). The eponym associated with this disorder, is the surname of the first patient examined in detail and reported by Biggs and colleagues in a paper describing the clinical and laboratory features of seven affected individuals (3). This patient has severe factor IX coagulant deficiency (less than 0.01 units/ml) and no detectable circulating factor IX antigen (less than 0.01 units/ml). Coding sequence and splice junctions of the factor IX gene from this patient have been amplified in vitro through the polymerase chain reaction (PCR). One nucleotide substitution was identified at nucleotide 30,070 where a guanine was replaced by a cytosine. This mutation alters the amino acid encoded at position 206 in the factor IX protein from cysteine to serine. The non conservative nature of this substitution, the absence of this change in more than 200 previously sequenced factor IX genes and the fact that the remainder of the coding region of this gene was normal, all provide strong circumstantial evidence in favour of this change being the causative mutation in this patient. The molecular characterization of this novel mutation in the index case of Christmas disease, contributes to the rapidly expanding body of knowledge pertaining to Christmas disease pathogenesis.


Sign in / Sign up

Export Citation Format

Share Document